Hypercarotenemia in children with Down's syndrome. 1990

W Storm
St Vincenz Krankenhaus, Paderborn, F.R.G.

In previous reports, deficiencies in serum vitamin A were considered a frequent finding in persons with Down's syndrome. Based on this assumption, the regular determination of both serum carotene and vitamin A has been recommended for the preventive care of this population. In the author's preventive medicine clinic for children with Down's syndrome, we have checked these items routinely in 44 fasting patients (aged 14 months to 19 years). The author was surprised to find no patient with either a deficiency of carotene or vitamin A, but 14 patients had hypercarotenemia. Any known aetiology of this finding, such as excessive ingestion, diabetes mellitus or hypothyroidism, could not be verified. It has to be mentioned that the previous reports on serum carotene levels were based on determinations by conventional spectrophotometric methods (normal range: 50-670 micrograms/dl), whereas the author applied an improved method of high-performance liquid chromatography with a much lower normal range (50-750 micrograms/l). Further investigations are to be performed to verify these findings and to evaluate probable mechanisms of hypercarotenemia in persons with Down's syndrome.

UI MeSH Term Description Entries
D006986 Hypervitaminosis A A symptom complex resulting from ingesting excessive amounts of VITAMIN A.
D007223 Infant A child between 1 and 23 months of age. Infants
D008297 Male Males
D012016 Reference Values The range or frequency distribution of a measurement in a population (of organisms, organs or things) that has not been selected for the presence of disease or abnormality. Normal Range,Normal Values,Reference Ranges,Normal Ranges,Normal Value,Range, Normal,Range, Reference,Ranges, Normal,Ranges, Reference,Reference Range,Reference Value,Value, Normal,Value, Reference,Values, Normal,Values, Reference
D002338 Carotenoids The general name for a group of fat-soluble pigments found in green, yellow, and leafy vegetables, and yellow fruits. They are aliphatic hydrocarbons containing 4 terpene subunits. Carotenes,Carotenoid,Tetraterpene Derivatives,Tetraterpenes,Carotene,Derivatives, Tetraterpene
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D004314 Down Syndrome A chromosome disorder associated either with an extra CHROMOSOME 21 or an effective TRISOMY for chromosome 21. Clinical manifestations include HYPOTONIA, short stature, BRACHYCEPHALY, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, single transverse palmar crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213) Mongolism,Trisomy 21,47,XX,+21,47,XY,+21,Down Syndrome, Partial Trisomy 21,Down's Syndrome,Partial Trisomy 21 Down Syndrome,Trisomy 21, Meiotic Nondisjunction,Trisomy 21, Mitotic Nondisjunction,Trisomy G,Downs Syndrome,Syndrome, Down,Syndrome, Down's
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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